A1A5B4 (ANO9_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 46.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Anoctamin-9 Alternative name(s): Transmembrane protein 16J Tumor protein p53-inducible protein 5 p53-induced gene 5 protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 782 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May act as a calcium-activated chloride channel. |
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Sequence similarities | Belongs to the anoctamin family. |
| Sequence caution | The sequence BAB84914.1 differs from that shown. Reason: Intron retention. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ion transport Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| Ligand | Calcium Chloride |
| Molecular function | Chloride channel Ionic channel |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: A1A5B4-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: A1A5B4-2) The sequence of this isoform differs from the canonical sequence as follows: 1-299: Missing. 300-305: VWDEEQ → MPAVSE | ||||||
| Isoform 3 (identifier: A1A5B4-3) The sequence of this isoform differs from the canonical sequence as follows: 156-186: GEGRLKKTWARWRHMFREQPVDEIRNYFGEK → VRGGPAWRGPWGGTLGWGLSLSVTRARGRDA 187-782: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 782 | 782 | Anoctamin-9 | PRO_0000289329 | |||||
Regions | |||||||||
| Topological domain | 1 – 198 | 198 | Cytoplasmic Potential | ||||||
| Transmembrane | 199 – 219 | 21 | Helical; Potential | ||||||
| Topological domain | 220 – 264 | 45 | Extracellular Potential | ||||||
| Transmembrane | 265 – 285 | 21 | Helical; Potential | ||||||
| Topological domain | 286 – 331 | 46 | Cytoplasmic Potential | ||||||
| Transmembrane | 332 – 352 | 21 | Helical; Potential | ||||||
| Topological domain | 353 – 373 | 21 | Extracellular Potential | ||||||
| Transmembrane | 374 – 394 | 21 | Helical; Potential | ||||||
| Topological domain | 395 – 423 | 29 | Cytoplasmic Potential | ||||||
| Transmembrane | 424 – 444 | 21 | Helical; Potential | ||||||
| Topological domain | 445 – 552 | 108 | Extracellular Potential | ||||||
| Transmembrane | 553 – 573 | 21 | Helical; Potential | ||||||
| Topological domain | 574 – 604 | 31 | Cytoplasmic Potential | ||||||
| Transmembrane | 605 – 625 | 21 | Helical; Potential | ||||||
| Topological domain | 626 – 703 | 78 | Extracellular Potential | ||||||
| Transmembrane | 704 – 724 | 21 | Helical; Potential | ||||||
| Topological domain | 725 – 782 | 58 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 641 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 652 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 674 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 690 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 299 | 299 | Missing in isoform 2. | VSP_036489 | |||||
| Alternative sequence | 156 – 186 | 31 | GEGRL…YFGEK → VRGGPAWRGPWGGTLGWGLS LSVTRARGRDA in isoform 3. | VSP_036490 | |||||
| Alternative sequence | 187 – 782 | 596 | Missing in isoform 3. | VSP_036491 | |||||
| Alternative sequence | 300 – 305 | 6 | VWDEEQ → MPAVSE in isoform 2. | VSP_036492 | |||||
| Natural variant | 93 | 1 | F → L. Ref.2 Ref.4 Corresponds to variant rs7395065 [ dbSNP | Ensembl ]. | VAR_054621 | |||||
| Natural variant | 391 | 1 | I → V. Ref.1 Ref.2 Ref.4 Corresponds to variant rs10794324 [ dbSNP | Ensembl ]. | VAR_032617 | |||||
| Natural variant | 399 | 1 | C → R. Ref.1 Ref.2 Ref.4 Corresponds to variant rs10794323 [ dbSNP | Ensembl ]. | VAR_032618 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones." Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N., Ohara O. DNA Res. 10:49-57(2003) [PubMed: 12693554] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS VAL-391 AND ARG-399. Tissue: Spleen. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANTS LEU-93; VAL-391 AND ARG-399. Tissue: Salivary gland and Thymus. |
| [3] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS LEU-93; VAL-391 AND ARG-399. |
| [5] | "TMEM16A confers receptor-activated calcium-dependent chloride conductance." Yang Y.D., Cho H., Koo J.Y., Tak M.H., Cho Y., Shim W.-S., Park S.P., Lee J., Lee B., Kim B.-M., Raouf R., Shin Y.K., Oh U. Nature 455:1210-1215(2008) [PubMed: 18724360] [Abstract] Cited for: IDENTIFICATION AS PUTATIVE CHLORIDE CHANNEL. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK074088 mRNA. Translation: BAB84914.1. Sequence problems. AK096874 mRNA. Translation: BAG53386.1. AK303642 mRNA. Translation: BAG64646.1. AC138230 Genomic DNA. No translation available. BC128557 mRNA. Translation: AAI28558.1. |
| IPI | IPI00152780. IPI00922125. IPI00922523. |
| RefSeq | NP_001012302.2. NM_001012302.2. |
| UniGene | Hs.501622. |
3D structure databases | |
| ProteinModelPortal | A1A5B4. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | A1A5B4. 1 interaction. |
| STRING | A1A5B4. |
Proteomic databases | |
| PRIDE | A1A5B4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000332826; ENSP00000332788; ENSG00000185101. |
| GeneID | 338440. |
| KEGG | hsa:338440. |
| UCSC | uc001lpi.2. human. |
Organism-specific databases | |
| CTD | 338440. |
| GeneCards | GC11M000409. |
| HGNC | HGNC:20679. ANO9. |
| neXtProt | NX_A1A5B4. |
| PharmGKB | PA164715791. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG16104. |
| GeneTree | ENSGT00600000084125. |
| HOGENOM | HBG445809. |
| HOVERGEN | HBG100444. |
| InParanoid | A1A5B4. |
| OMA | YQHSYLR. |
| OrthoDB | EOG4F4S9W. |
| PhylomeDB | A1A5B4. |
Gene expression databases | |
| Bgee | A1A5B4. |
| CleanEx | HS_ANO9. |
| Genevestigator | A1A5B4. |
Family and domain databases | |
| InterPro | IPR007632. Anoctamin. [Graphical view] |
| PANTHER | PTHR12308. DUF590. 1 hit. |
| Pfam | PF04547. Anoctamin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 97010. |
Entry information
| Entry name | ANO9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: A1A5B4 Secondary accession number(s): B3KUC4, B4E134, Q8TEN4 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with